DisGeNET - a database of gene-disease associations

rs193922400, ABCC8

N. diseases: 2

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

CUI:	C1835887
Disease:	DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

10

0.925

0.120

11

17404524

missense variant

C/A;T

snv

4.0E-06

0.800

Neonatal diabetes mellitus

CUI:	C0158981
Disease:	Neonatal diabetes mellitus

33

0.925

0.120

11

17404524

missense variant

C/A;T

snv

4.0E-06

0.700